The VHL gene encodes a 213-aa protein (VHL30) and a second active protein (VHL19) transcribed from an alternative start site. The proteins interact with elongin and cullin-2 and an important part of their role in tumour suppression may be by binding to hypoxia inducible factor-1 (HIF-1), targeting it for destruction when oxygen is present. There is also a role in up-regulating p53. Expression during embryogenesis is ubiquitous but levels are particularly high in the urogenital system, brain, spinal cord, sensory ganglia, eyes, and bronchial epithelium.
Subjects: Medicine and Health.